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Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Pericarditis resulting in pericardial effusion of varying degree has been observed in a subset of affected individuals and could represent a severe feature in neonatal or infantile age. Here, we describe a syndromic infant with massive pericardial effusion and craniofacial features that oriented toward the suspicion of AYGRPS, which was subsequently confirmed by the molecular analysis of MAF. Pericardial effusion was first observed prenatally and documented to be recurrent, progressive, and severe in the first months of life, thus requiring pericardiocentesis and surgical procedures. In this report, we provide further delineation of the minor clinical characteristics, particularly focusing on cardiac features of AYGRPS. A dedicated cardiac surveillance of these findings may help reduce the morbidity and mortality of this rare condition., (© 2024 Wiley Periodicals LLC.)

Objective: Although corticosteroids and other treatments for idiopathic sudden sensorineural hearing loss (ISSNHL) have been described, understanding its prognosis without intervention provides valuable information for patient management. The objective of this study is to provide a comprehensive, quantitative statistical analysis of the natural history of untreated idiopathic sudden sensorineural hearing loss (ISSNHL)., Study Type and Design: A systematic review and meta-analyses., Methods: Two independent searches of PubMed, Scopus, Web of Science, and Cochrane Library databases up to June 30, 2022, were performed. Adults with idiopathic sudden sensorineural hearing loss who received placebo or were untreated and had audiometric outcome measures in all study types were reviewed. These data indicative of the natural history of ISSNHL were analyzed, as were study characteristics related to risk of bias. Heterogeneity as assessed via I 2 and random effects analyses were performed., Results: Six studies meeting the inclusion criteria yielded 319 untreated patients whose natural history could be assessed. Heterogeneity among studies was moderate, with a variety of reported outcomes. A hearing improvement of at least 30 dB HL was observed in 36% (95% CI 0.28-0.44) of untreated patients, and of at least 10 dB HL was observed in 70% (95% CI 0.57-0.82) of untreated patients at 3 months. The mean hearing gain among untreated patients was 24.0 dB HL (95% CI 2.65-45.37) at 2-3 months., Conclusions: The observed natural history of ISSNHL suggests that patients can regain some hearing without active treatment. In the absence of future studies collecting prospective natural history data from untreated or placebo-treated ISSNHL patients, the data presented here provide the best available historical control data for reconsideration of results in past ISSNHL studies, as well as a roadmap for design and interpretation of future ISSNHL treatment clinical trials. Furthermore, knowing there is a statistically significant mean hearing gain of 24.0 dB HL in the untreated/placebo group provides an ethical basis for future placebo study of ISSNHL. The current status on ISSNHL management calls for a multi-institutional, randomized, double-blind placebo-controlled trial with validated outcome measures to provide science-based treatment guidance. Laryngoscope, 134:S1-S15, 2024., (© 2024 The Authors. The Laryngoscope published by Wiley Periodicals LLC on behalf of The American Laryngological, Rhinological and Otological Society, Inc.)

Objectives: To comprehensively examine the characteristics and prognosis of bilateral sudden sensorineural hearing loss (BSSHL) and its subtypes compared to unilateral sudden sensorineural hearing loss (USSHL)., Data Sources: PubMed, Scopus, and CINAHL., Review Methods: Databases were searched from inception to December 5, 2023, for studies reporting patient characteristics and audiometric outcomes for BSSHL and its simultaneous (Si-BSSHL) and sequential (Se-BSSHL) subtypes. Meta-analysis of continuous measures, proportions (%), mean differences (Δ), and odds ratio (OR) were performed., Results: Eleven studies were included, consisting of 368 patients with BSSHL and 2,705 patients with USSHL. The pooled prevalence among all SSHL cases was 88.1% (95% CI: 81.2%-93.6%) for USSHL and 11.9% (95% CI: 6.4% to 18.8%) for BSSHL. PTA improvement following treatment with steroids was significantly worse in patients with BSSHL (Δ15.3 dB; 95% CI: 14.6 to 15.9; p < 0.0001) compared to patients with USSHL. There was no significant difference in post-treatment PTA improvement between the BSSHL subtypes. Patients with Si-BSSHL were significantly less likely to have an idiopathic etiology (OR: 0.4; 95% CI: 0.2 to 0.8; p = 0.01) and significantly more likely to have an autoimmune disease etiology (OR: 27.4; 95% CI: 2.2 to 336.1; p = 0.01), comorbid cardiovascular disease (OR: 2.3; 95% CI: 1.1 to 5.1; p = 0.03), and comorbid hypertension (OR: 2.5; 95% CI: 1.6 to 3.8; p < 0.0001) compared to patients with USSHL., Conclusions: BSSHL is a considerably rarer form of SSHL with worse prognosis compared to USSHL. BSSHL, and Si-BSSHL in particular, has significantly greater associations with systemic pathologies compared to USSHL. Laryngoscope, 134:3883-3891, 2024., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)

This study aimed to establish a deep learning-based predictive model for the prognosis of idiopathic sudden sensorineural hearing loss (SSNHL). Data from 1108 patients with SSNHL between January 2015 and May 2023 were retrospectively analyzed. Patients underwent standardized treatment protocols including high-dose steroid therapy and hearing outcomes were assessed after three months using Siegel's criteria and the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) classification. For predicting patient recovery, a two-layered classification process was implemented. Initially, a set of 22 Multilayer Perceptrons (MLP) networks was employed to categorize the patients. The outcomes from this initial categorization were subsequently relayed to a second-layer meta-classifier for final prognosis determination. The validity of this methodology was ascertained through a K-fold cross-validation procedure executed with 10 distinct splits. The prediction model for complete recovery, based on Siegel's criteria, demonstrated an accuracy of 0.892 and area under the curve (AUC) of 0.922. For the class A prediction, according to AAO-HNS classification, the model showed an accuracy of 0.847 and AUC of 0.918. These results suggest that the model may have the potential to contribute to the establishment of tailored patient management strategies by predicting hearing recovery in patients with SSNHL., (© 2024. The Author(s).)

Rationale: Congenital sensorineural hearing loss is a significant global health issue, primarily driven by genetic factors, such as mutations in the GJB2 gene. This report presents a Chinese girl with congenital deafness and a novel mutation of the GJB2 gene., Patient Concerns: A newborn Chinese girl exhibited signs of congenital deafness., Diagnosis: Congenital deafness was confirmed through comprehensive newborn hearing screenings that included otologic, audiologic, and physical examinations. Genetic analysis revealed a compound heterozygous mutation involving c.188delT and c.235delC in the GJB2 gene, indicating a genetic basis for her hearing loss., Interventions: The patient underwent cochlear implantation, which resulted in stable auditory outcomes., Outcomes: Despite follow-up difficulties, stable auditory outcomes were achieved post-cochlear implantation, highlighting the potential efficacy of this intervention in GJB2-related hearing loss., Lessons: This case study enriches our understanding of GJB2 mutations and underscores the critical role of genetic testing in diagnosing congenital sensorineural hearing loss. It emphasizes the necessity for early intervention and sustained interdisciplinary care to enhance the quality of life for patients with genetic hearing impairment., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Objectives: To analyze the performance of a leading institution in implementing newborn hearing screening and address two key areas: the knowledge gap in screening practice and the prevalence of permanent sensorineural hearing loss in Saudi Arabia., Methods: We analyzed the prevalence of hearing impairment in all live births at King Fahad Hospital of the University, Al Khobar, Saudi Arabia, from September 2018 to June 2022. Automated auditory brainstem response was used for both initial screening and rescreening. Newborns who failed the rescreening underwent a diagnostic evaluation. We assessed the coverage of initial screening, the rate of lost follow-up, referrals for rescreening and diagnostic evaluation, and the prevalence of hearing impairment., Results: A total of 5,986 newborns were born. Of these, 96.5% were screened. The passing rate for the initial screening and rescreening was 71.8%. However, 27.5% of newborns were lost to follow-up. Only 0.7% required referral for a diagnostic evaluation. The overall prevalence of hearing impairment was 2.6 per 1,000 newborns., Conclusion: Early identification of hearing loss through newborn screening improves the lives of affected individuals. Our program currently meets the World Health Organization's 1-3-6 benchmark goals. However, the underestimation of permanent hearing loss due to the 30% lost-to-follow-up rate is a limitation. Emphasizing the importance of the screening program is crucial to raising awareness and improving the accuracy of prevalence rates., (Copyright: © Saudi Medical Journal.)

Introduction: Osteogenesis imperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46-58 % of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed hearing loss. Majority of these studies focus on the adult population., Objectives: Identify a relationship between OI and hearing loss in the pediatric population., Methods: The TriNetx Analytics Network, a federated health research network that aggregates the de-identified electronic health record data of over 78 million patients across the United States, was queried for patients 18 years old or younger with a diagnosis of OI. Patients in this group with diagnosis of sensorineural, conductive, or mixed hearing loss were recorded. Patients with diagnoses of congenital cytomegalovirus, congenital inner ear malformations, and noise-induced hearing loss were excluded from analysis., Results: Out of 3256 patients 18 years old or younger with OI, 10.07 % (95 % CI: 9.06-11.16) had a history of any form of hearing loss, 5.71 % (95 % CI: 4.94-6.57) had conductive hearing loss, 3.01 % (95 % CI: 2.45-3.66) had sensorineural hearing loss, and 1.35 % (95 % CI: 0.98-1.81) had mixed hearing loss. Relative risks for diagnosis of any type of hearing loss, conductive hearing loss, sensorineural hearing loss, and mixed hearing loss were calculated: 5.90 (95 % CI 5.32-6.53), 5.08 (95 % CI 4.42-5.84), 6.18 (95 % CI 5.09-7.51), and 13.86 (95 % CI 10.33-18.59) respectively., Discussion: This study is the largest to date that describes a relationship between OI and conductive, sensorineural, and mixed hearing loss. Pediatric patients with OI are almost five times as likely to have any type of hearing loss. There was a significant increased risk in each subgroup, but conductive hearing loss was the most common for hearing loss in children with OI. The highest risk subtype when compared to controls was mixed hearing loss., Competing Interests: Declaration of competing interest Authors Chelsea Cleveland, Jamil Hayden, Tekin Baglam, and Todd Otteson have no disclosures to report., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Sensorineural hearing loss is a well-known complication of Streptococcus pneumoniae meningitis. Given the propensity for fibrosis and ossification of the cochlea in bacterial meningitis, implantation must be performed in a timely fashion because a delayed attempt at implantation can frustrate obtaining an optimal technical result or lead to an inability to implant. Obtaining optimal audiometric outcomes is reliant on early hearing screening in patients with streptococcal meningitis. In the absence of standardized protocols, audiometric testing is often overlooked or delayed in the workup and management of meningitis. Our institution implemented a meningitis protocol with a particular focus on timing of audiometric testing in patients with meningitis. We present a patient diagnosed with streptococcal meningitis in the first week of life. Early hearing screening allowed the diagnosis of profound unilateral sensorineural hearing loss and subsequent cochlear implantation at 10 weeks of age, the youngest described in the medical literature. Despite early implantation, there was cochlear fibrosis at the time of implantation. Fortunately, the majority of electrodes were implanted to achieve a serviceable hearing outcome. Serial magnetic resonance imaging scans were obtained because of her contralateral ventriculoperitoneal shunt that allowed unique visualization of the progression of cochlear fibrosis over time. This case demonstrates the importance of including audiometric testing in a standardized meningitis protocol to diagnose hearing loss in a timely and accurate way and to achieve optimal long-term hearing outcomes., (Copyright © 2024 by the American Academy of Pediatrics.)

Objective: Acute sensorineural hearing loss represents a spectrum of conditions characterized by sudden onset hearing loss. The "Clinical Practice Guidelines for the Diagnosis and Management of Acute Sensorineural Hearing Loss" were issued as the first clinical practice guidelines in Japan outlining the standard diagnosis and treatment. The purpose of this article is to strengthen the guidelines by adding the scientific evidence including a systematic review of the latest publications, and to widely introduce the current treatment options based on the scientific evidence., Methods: The clinical practice guidelines were completed by 1) retrospective data analysis (using nationwide survey data), 2) systematic literature review, and 3) selected clinical questions (CQs). Additional systematic review of each disease was performed to strengthen the scientific evidence of the diagnosis and treatment in the guidelines., Results: Based on the nationwide survey results and the systematic literature review summary, the standard diagnosis flowchart and treatment options, including the CQs and recommendations, were determined., Conclusion: The guidelines present a summary of the standard approaches for the diagnosis and treatment of acute sensorineural hearing loss. We hope that these guidelines will be used in medical practice and that they will initiate further research., Competing Interests: Declaration of competing interest All authors declare no conflicts of interest in this study., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Objective: We used simple variables to construct prognostic prediction ensemble learning models for patients with sudden sensorineural hearing loss (SSNHL)., Study Design: Retrospectively study., Setting: Tertiary medical center., Patients: 1,572 patients with SSNHL., Intervention: Prognostic., Main Outcome Measures: We selected four variables, namely, age, days after onset of hearing loss, vertigo, and type of hearing loss. We also compared the accuracy between different ensemble learning models based on the boosting, bagging, AdaBoost, and stacking algorithms., Results: We enrolled 1,572 patients with SSNHL; 73.5% of them showed improving and 26.5% did not. Significant between-group differences were noted in terms of age ( p = 0.011), days after onset of hearing loss ( p < 0.001), and concurrent vertigo ( p < 0.001), indicating that the patients who showed improving to treatment were younger and had fewer days after onset and fewer vertigo symptoms. Among ensemble learning models, the AdaBoost algorithm, compared with the other algorithms, achieved higher accuracy (82.89%), higher precision (86.66%), a higher F1 score (89.20), and a larger area under the receiver operating characteristics curve (0.79), as indicated by test results of a dataset with 10 independent runs. Furthermore, Gini scores indicated that age and days after onset are two key parameters of the predictive model., Conclusions: The AdaBoost model is an effective model for predicting SSNHL. The use of simple parameters can increase its practicality and applicability in remote medical care. Moreover, age may be a key factor influencing prognosis., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2024, Otology & Neurotology, Inc.)

Objective: The purpose of this study was to evaluate the value of asymmetry values, gain, and pathological saccades of the video head impulse test (vHIT) in sudden sensorineural hearing loss (SSNHL)., Study Design: Retrospective study., Setting: Tertiary referral center., Patients: A total of 226 individuals diagnosed with unilateral definite SSNHL were hospitalized. The assessment included a comprehensive evaluation of medical history, pure-tone test, acoustic impedance, positional test, video nystagmography (VNG), vHIT, vestibular evoked myogenic potentials (VEMPs) and magnetic resonance., Interventions: vHIT, VNG, cVEMP, oVEMP. Statistical analysis was performed with SPSS version 22.0 for Windows., Main Outcome Measures: The asymmetry values, gain, and pathological saccades of the vHIT., Results: The abnormal gain of vHIT in anterior, horizontal, and posterior canal in SSNHL patients with vertigo were revealed in 20 of 112 (17.9%), 24 of 112 (21.4%), and 60 of 112 (53.6%), respectively. The vHIT pathological saccades (overt + covert) of anterior, horizontal, and posterior canal in SSNHL patients with vertigo were observed in 5 of 112 (4.6%), 52 of 112 (46.4%), and 58 of 112 (51.8%), respectively. Multivariate analysis indicated that the prognosis of patients with vertigo was correlated with vHIT gain of posterior canal, pathological saccade in horizontal canal, asymmetric ratio of horizontal canal gain, asymmetric ratio of posterior canal gain, Canal paresis (%) on caloric test and spontaneous nystagmus., Conclusion: In the vHIT of patients with SSNHL with vertigo, the posterior canal is most easily affected. Reduced gain of posterior canal, pathological saccade of horizontal canal, and larger asymmetric gain of posterior canal and horizontal canal may be negative prognostic factors., Competing Interests: The authors disclose no conflicts of interest., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of Otology & Neurotology, Inc.)

Purpose of Review: Universal and targeted screening of newborns for congenital cytomegalovirus (CMV) infection is increasing globally. Questions remain concerning the management of infants who have been identified with congenital CMV infection, especially those with "minimally symptomatic" or clinically inapparent infection. Our objective is to discuss current management of CMV-infected neonates with a focus on less affected infants with or without sensorineural hearing loss (SNHL)., Recent Findings: Valganciclovir is being prescribed increasingly in neonates with congenital CMV infection for improvement in hearing outcomes through 2 years of age. Treatment initiated in the first month of age is recommended for clinically apparent disease. A recent study showed hearing improvement at 18-22 months of age when therapy was initiated at age 1-3 months in infants with clinically inapparent CMV infection and isolated SNHL., Summary: Antiviral therapy with either ganciclovir or valganciclovir has shown moderate benefit in prevention of hearing deterioration among infants with clinically apparent CMV infection or isolated SNHL. Sustainability of benefit beyond 2 years of age remains unknown. At present, infants with clinically inapparent CMV infection (normal complete evaluation including hearing) should not receive antiviral therapy. All CMV-infected infants require close audiological and neurodevelopmental follow-up., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose of Review: Congenital CMV (cCMV) infection is the most common infection of newborns and a leading cause of hearing loss and other neurologic disabilities in children. This review focuses on the diagnosis, presentation and management of cCMV infection., Recent Findings: Cytomegalovirus is one of the leading causes of sensorineural hearing loss in children. It also leads to neurodevelopmental disabilities and learning problems throughout childhood in both symptomatic and asymptomatic newborns. Urine and saliva PCR testing are the preferred methods of testing newborn infants for cCMV. In recent years, newborn-targeted and universal screening programs have been implemented in several states and major medical centers with the goal of identifying infected infants at risk for hearing loss. Treatment for infants diagnosed with cCMV infection should be limited to those who are moderately to severely symptomatic at birth with cCMV infection, though treatment may be beneficial for children who are asymptomatic with isolated sensorineural hearing loss., Summary: As more children with cCMV are being identified through newborn screening, understanding the clinical presentation and sequelae is important for appropriate management of children with cCMV., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background:  South Africa shows a high prevalence of type 2 diabetes with reported association with auditory dysfunction., Objectives:  To describe the audiological profile of adults with this metabolic condition., Method:  Employing a descriptive research design, 35 individuals with type 2 diabetes, selected through purposive sampling, underwent a basic audiological assessment in addition to extended high-frequency (EHF) audiometry, distortion product otoacoustic emissions (DPOAE) testing and neurological auditory brainstem response (ABR) test., Results:  This study revealed a 31.4% prevalence of hearing loss with 81.8% being sensorineural in nature. Poor hearing thresholds were observed at 16 kHz (n = 19; 54.3%), 18 kHz (n = 24; 68.6%) and 20 kHz (n = 30; 85.7%) in the right ear and at 16 kHz (n = 20; 57.1%), 18 kHz (n = 24; 68.6%) and 20 kHz (n = 30; 85.7%) in the left ear. Absent DPOAEs were observed at 6 kHz (n = 20; 51.7%) and 8 kHz (n = 24; 68.6%) in the right ear and at 6 kHz (n = 17; 48.6%) and 8 kHz (n = 29; 82.9%) in the left ear, possibly indicating that type 2 diabetes specifically targets higher frequency hearing. The ABR results revealed a delayed absolute latency of wave III bilaterally (right ear -69%; left ear - 51%), suggesting an impact of this metabolic disease on retro-cochlear pathways., Conclusion:  Hearing loss should be recognised as a comorbidity accompanying type 2 diabetes, which indicates the need for routine comprehensive audiological assessments to facilitate early detection and intervention.Contribution: The present findings have implications for audiology clinical protocols; diabetes related health policies and patient education.

Cytomegalovirus (CMV) is the leading infectious cause of brain defects and neurological dysfunctions, including sensorineural hearing loss (SNHL). Targeted screening in neonates failing the hearing screen is currently recommended in Italy according to national guidelines. However, SNHL may not be present at birth; also, congenital CMV (cCMV) may manifest with subtle signs other than SNHL. Therefore, the inclusion of additional criteria for cCMV screening appears clinically valuable. Starting January 2021, we have implemented expanded targeted cCMV screening at our center, with testing in case of maternal CMV infection during pregnancy, inadequate antenatal care, maternal HIV infection or immunosuppression, birthweight and/or head circumference < 10th centile, failed hearing screen, and prematurity. During the first three years of use of this program (2021-2023), 940 (12.3%) of 7651 live-born infants were tested. The most common indication was birthweight < 10th centile (n = 633, 67.3%). Eleven neonates were diagnosed as congenitally infected, for a prevalence of 1.17% (95%CI 0.48-1.86) on tested neonates and of 0.14% (95%CI 0.06-0.23) on live-born infants. None of the cCMV-infected newborns had a failed hearing screen as a testing indication. Implementation of an expanded cCMV screening program appears feasible and of clinical value.

Hearing loss is the cause of significant morbidity throughout the United States and the world. Because of numerous factors, such as ongoing noise exposure, poorly controlled chronic disease, and an aging population, the burden of hearing loss is expected to continue to increase. Hearing loss commonly is categorized as conductive, sensorineural, or mixed. The type of hearing loss can be determined through a combination of patient history and physical examination, and then confirmed with audiometry and tympanometry. Advanced imaging is not typically necessary, but it may be helpful in specific instances. The presentation of sudden sensorineural hearing loss should prompt urgent referral to an otolaryngologist and audiologist. Management of this condition is selective but may initially include oral corticosteroids. Management for chronic hearing loss involves the use of hearing aids, which can offer a large benefit to users but historically have been expensive and not covered by many insurance plans. Recent US legislation has made hearing aids more accessible and affordable by allowing direct-to-consumer marketing and offering over-the-counter hearing aids without a clinical evaluation., (Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.)

Purpose: Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria., Methods: In an ongoing prospective study, 27 consecutive index patients clinically diagnosed with non-syndromic AD HL, including 18 previously unpublished cases, were analyzed using whole-exome sequencing (WES) and gene panels. Novel variants were characterized using literature and bioinformatic means. Two additional Austrian medical centers provided AD HL mutational data obtained with in-house pipelines. Other Austrian cases of AD HL were gathered from literature., Results: The solve rate (variants graded as likely pathogenic (LP) or pathogenic (P)) within our cohort amounted to 59.26% (16/27). MYO6 variants were the most common cause. One third of LP/P variants were truncating variants in haploinsufficiency genes. Ten novel variants in HL genes were identified, including six graded as LP or P. In one cohort case and one external case, the analysis uncovered previously unrecognized syndromic presentations., Conclusion: More than half of AD HL cases analyzed at our center were solved with WES. Our data demonstrate the importance of genetic testing, especially for the diagnosis of syndromic presentations, enhance the molecular knowledge of genetic HL, and support other laboratories in the interpretation of variants., (© 2024. The Author(s).)

Purpose: To review possible risk factors for permanent delayed-onset, progressive sensorineural hearing loss (SNHL) in the paediatric population to recommend follow-up protocols for early detection., Methods: PRISMA-compliant systematic review was performed, including observational studies on the paediatric population up to 16 years old who have passed the newborn hearing screening programme (NHSP), investigating the development of late-onset, progressive SNHL. Electronic searches were performed through Medline, Embase, Cochrane, and Emcare., Results: 37 studies were included. 21 showed an association between late-onset SNHL and congenital cytomegalovirus (cCMV) infection (age at hearing loss diagnosis 0.75 to 204 months, mean 45.6 ± 43.9), while 16 between late-onset SNHL and other congenital or perinatal factors, namely Neonatal Intensive Care Unit (NICU) stay, prematurity, neonatal respiratory failure, mechanical ventilation, extracorporeal membrane oxygenation (ECMO) support, hypocapnia, hypoxia, alkalosis, seizure activity, congenital diaphragmatic hernia (CDH), inner ear malformation, and gene mutations (age at hearing loss diagnosis 2.5 to 156 months, mean 38.7 ± 40.7)., Conclusions: cCMV infection may cause late-onset SNHL, which can be missed on standard NHSP. There is, therefore, evidence to support universal screening programmes to enable detection in even asymptomatic neonates. Ongoing audiological follow-up for all children with cCMV is advisable, to enable timely treatment. In the paediatric population presenting conditions such as NICU stay > 5 days, prematurity ≤ 34 weeks gestation, severe neonatal respiratory failure, mechanical ventilation, ECMO support, and CDH surgery, an audiological follow-up from 3 months of age up to at least 3-4 years of age, and at least annually, should be recommended., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Heimler syndrome (HS) is a rare disorder that includes sensorineural hearing loss (SNHL), nail abnormalities, and enamel hypoplasia. Patients with this syndrome can also exhibit ocular manifestations. At present, only a few cases of HS have been reported, existing knowledge of this syndrome is limited, and many cases have been misdiagnosed or even missed. This is the first report of Heimler syndrome with blurred vision as the first complaint, which was diagnosed by genetic analysis in the ophthalmology department., Case Description: An 8-year-old girl complained of bilateral visual blur and night blindness from birth. Ophthalmic examinations revealed bilateral retinitis pigmentosa with cystoid macular edema, visual impairment with hyperopia and astigmatism. Hearing test revealed bilateral severe sensorineural hearing loss. Dental examinations revealed enamel hypoplasia. In addition, whole-exome sequencing (WES) identified two pathogenic variants in PEX1 : the previously reported missense variant c.2966T > C (p.I989 T), and the novel frameshift variant c.1671&#95;1672del (p.G558Sfs*33)., Conclusion: Heimler syndrome is caused by compound heterozygous PEX1 pathogenic variants, c.2966T > C (p.I989 T) and c.1671&#95;1672del (p.G558Sfs*33), which contributed to the diversity of clinical and genetic profiles in this patient. The main clinical manifestations include bilateral retinitis pigmentosa with cystoid macular edema, sensorineural hearing loss, and enamel hypoplasia. Systemic examinations are suggested for patients suspected of having pigmentary retinal dystrophy, especially combined with hearing-related impairments. Genetic testing can help us to make a definitive diagnosis., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: Despite recent developments in vitrectomy technology and instrumentation, rhegmatogenous retinal detachment in Stickler syndrome (RDS) remains a challenge for surgeons. RDSs are associated with a higher rate of complications and surgical failures than those not associated with Stickler syndrome. This study is a report about anatomic and visual outcomes of RDS surgery and describes the surgical techniques associated with the treatment of this specific condition., Methods: This is a retrospective, interventional, consecutive case series of patients with RDS undergoing retinal reattachment surgery from 1990 to 2020 at the Institute of Ocular Microsurgery (IMO) in Barcelona, Spain., Results: Twenty-four eyes of 18 patients with genetically confirmed Stickler syndrome were included in the study. Ten eyes (41.6%) presented a giant retinal tear. Retinal reattachment was achieved in all cases after an average of 1.21 (range 1-6) surgical interventions. Nineteen eyes (79%) required only one operation to achieve complete retinal reattachment. The most common first surgical procedure was a 4-mm scleral buckle with posterior pars plana vitrectomy and silicone oil endotamponade, performed on 16 (66.6%) of the eyes. The mean follow-up period was 10.2 years. Mean preoperative visual acuity LogMar was 1.10 (Snellen equivalent 20/252), which improved to 0.50 (Snellen equivalent 20/63) at final follow-up (p < 0.05)., Conclusion: In most RDS cases, anatomic success and visual acuity improvement can be achieved with the first surgical procedure, using a combination of silicone oil tamponade and a 4-mm scleral encircling band. In some early cases of RDS, other less invasive surgical techniques can be used., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Hearing problems are commonly diagnosed with the use of tonal audiometry, which measures a patient's hearing threshold in both air and bone conduction at various frequencies. Results of audiometry tests, usually represented graphically in the form of an audiogram, need to be interpreted by a professional audiologist in order to determine the exact type of hearing loss and administer proper treatment. However, the small number of professionals in the field can severely delay proper diagnosis. The presented work proposes a neural network solution for classification of tonal audiometry data. The solution, based on the Bidirectional Long Short-Term Memory architecture, has been devised and evaluated for classifying audiometry results into four classes, representing normal hearing, conductive hearing loss, mixed hearing loss, and sensorineural hearing loss. The network was trained using 15,046 test results analysed and categorised by professional audiologists. The proposed model achieves 99.33% classification accuracy on datasets outside of training. In clinical application, the model allows general practitioners to independently classify tonal audiometry results for patient referral. In addition, the proposed solution provides audiologists and otolaryngologists with access to an AI decision support system that has the potential to reduce their burden, improve diagnostic accuracy, and minimise human error., (© 2024. The Author(s).)

Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype., Materials and Methods: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES)., Results: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals., Conclusions: We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.

MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9-RD in Japan. Our registry system will continue to contribute to this issue., (© 2024 British Society for Haematology and John Wiley & Sons Ltd.)

We report two cases of carotid-cochlea dehiscence involving the cochlear apex, with, to our knowledge, the first description of this anomaly in two members of a family (mother-daughter). Pure tone audiometry revealed a bilateral mild sensorineural hearing loss predominantly on the left in the daughter, and a left mild mixed hearing loss with a predominance of sensorineural loss in the medium frequencies in the mother Carotid-cochlear dehiscence is a rare anomaly with a multiform expression, which should be investigated in cases of third mobile window symptoms, but also atypical sensorineural hearing loss, or before any cochlear implantation. Laryngoscope, 134:2912-2914, 2024., (© 2023 The American Laryngological, Rhinological and Otological Society, Inc.)

Background and Aims: Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD. However, the CMTPedS requires modifications to account for phenotypic differences between children with CMT and RTD. The aim of this study was to develop a functional outcome measure based on the CMTPedS for specific use in individuals with RTD., Methods: The CMTPedS data collected over the last 10 years in individuals with RTD attending the Peripheral Neuropathy Management Clinic at the Children's Hospital at Westmead (Sydney, Australia) were reviewed to evaluate each item within the CMTPedS. A literature review of articles published until September 2021 for functional outcome measures generated an item pool for pilot testing. The results of this pilot testing, alongside analysis of existing CMTPedS item scores in the RTD cohort, informed the modification of the CMTPedS., Results: CMTPedS data were reviewed for eight individuals over the past 10 years. Two items were identified as requiring modification or removal and additional items of proximal strength and function needed to be considered. Six studies were identified in the literature review, and five items were selected for pilot testing. 'Shoulder internal rotation' and the '30-s sit to stand test' were added as proximal measures of strength and function. The composite balance item comprising nine tasks in the CMTPedS showed a ceiling effect and was replaced with the single 'Feet apart on a line eyes open' balance item. 'Pinprick sensation' was removed due to a floor effect., Interpretation: This study provides preliminary evidence that the Riboflavin Transporter Deficiency Pediatric Scale (RTDPedS) is a functional outcome measure covering strength, upper and lower limb function, balance and mobility for individuals with RTD to assess disease severity and progression in clinical trials and cohort studies., (© 2024 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals LLC on behalf of Peripheral Nerve Society.)

It is reported that sudden sensorineural hearing loss (SSNHL) is closely related to diabetes, hypertension, and hyperlipidemia. While the metabolic syndrome (MetS) is a multifactorial disease that includes diabetes, hypertension, dyslipidemia, and obesity, which are known to be associated with SSNHL. Weather conditions have long been known to affect the SSNHL. This study aimed to make a clear connection between MetS, or weather conditions, and the severity and prognosis of SSNHL. 127 SSNHL patients have been divided into the MetS group and the non-MetS group, and the demographic and clinical characteristics of the 2 groups have been analyzed retrospectively. There were 52 (40.9%) patients in the MetS group, while there were 75 (59.1%) patients in the non-MetS group. The rate of vertigo, hypertension, diabetes, lower high-density lipoprotein cholesterol (HDL-C) levels, high triglyceride (TG), and body mass index (BMI) ≥25 (kg/m2 ) were significantly higher in the MetS group than those in non-MetS group. Vertigo, hypertension, and Mets were linked to the severity of hearing loss. The rate of complete recovery and partial recovery in the MetS group was clearly lower than that in non-MetS group. According to the multivariate analysis, MetS was significantly associated with a poorer prognosis of SSNHL; a high ambient temperature difference at onset and hypertension were correlated with a poor prognosis. These results demonstrate that the severity and prognosis of SSNHL can be influenced by the MetS. High ambient temperature differences at onset and hypertension were indicators of a poor prognosis for SSNHL.

We present a case study of a 24-year-old man who reported mild balance and walking difficulties for 2 years. He had a history of recurrent fever, skin lesions, headache, and elbow pain, but most of these events resolved spontaneously. There was no significant family history. On examination, we observed frontal bossing, sensorineural hearing loss, and gait ataxia. This case underscores the significance of identifying clinical indicators in patients with neurologic symptoms, particularly recurrent fever, to establish a precise and thorough differential diagnosis.

Alport syndrome and autosomal dominant polycystic kidney disease are monogenic causes of chronic kidney disease and end-stage kidney failure. We present a case of a man in his 60s with progressive chronic kidney disease, bilateral sensorineural hearing loss and multiple renal cysts. Genetic analysis revealed a heterozygous variant in COL4A3 (linked to Alport syndrome) and in the GANAB gene (associated with a milder form of autosomal dominant polycystic kidney disease). Although each variant confers a mild risk of developing end-stage kidney disease, the patient presented a pronounced and accelerated progression of chronic kidney disease, which goes beyond what would be predicted by adding up their individual effects. This suggests a potential synergic effect of both variants, which warrants further investigation., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Introduction: The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL., Materials and Methods: We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritised and analysed., Results: 24% (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes., Conclusions: Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients., (Copyright © 2023 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Published by Elsevier España, S.L.U. All rights reserved.)

A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay., (© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)

A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father also had degenerative high myopia (-12.00 diopters) in the right eye, bilateral congenital lens opacities, and retinal detachment in the left eye. Her mother was emmetropic with normal eye examination results. Clinical exome sequencing analysis revealed a novel ENST00000380518.3 c.3528&#95;3530 delins GACCATTAGCA (Chr12:48369813: GCA > TGCTAATGGTC) variant in the collagen type II alpha 1 chain ( COL2A1 ) on chromosome 12q13 (OMIM 108300), consistent with the Stickler syndrome type 1. Subsequent segregation analysis revealed paternal inheritance. Although many pathogenic null variants have been described within the COL2A1 gene, there is currently no documented literature pertaining to this specific variant, making this the inaugural report of its manifestation in scientific discourse. [ J Pediatr Ophthalmol Strabismus. 2024;61(3):e23-e27.] .

Brainstem evoked response audiometry (BERA) is the most established and recommended objective audiometric method for the clinical diagnosis of hearing impairment in high-risk infants. It is unclear whether infants with orofacial clefts meet the criteria for the high-risk group. This retrospective cohort study evaluated the need for diagnostic BERA in infants with cleft palate with or without cleft lip by assessing the predisposition to and diagnosis of congenital hearing impairment. Data from 122 patients treated at a single cleft centre were evaluated. BERA was conducted at the time of palate repair at 4-6 months of age. Clinical follow-up was analysed up to 4 years. The presence of a syndrome was examined as a risk factor for congenital hearing impairment. Among the 122 patients, four had congenital sensorineural or mixed hearing loss requiring hearing aids. All affected patients had syndromes in addition to the cleft. Most patients with elevated hearing thresholds had transient conductive hearing loss. Most suspected sensorineural hearing loss initially diagnosed was refuted. However, a higher incidence of sensorineural hearing loss was found in patients with syndromic clefts, supporting the diagnostic use of BERA with initial surgery only in patients with syndromic clefts., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Purpose: Idiopathic sudden sensorineural hearing loss (ISSHL) can cause acute damage not only to the auditory function, but also to the vestibular function in addition to damage to the hearing function. The aim of this study was to perform vestibular assessment using caloric test and video head impulse test in patients with idiopathic sudden sensorineural hearing loss. In addition, to evaluate the relationship of dizziness with vestibular tests and post-treatment responses of vestibular tests., Methods: This is an observational, longitudinal and prospective study, including patients diagnosed with idiopathic sudden sensorineural hearing. Patients were divided into two groups according to the presence of vestibular complaints at presentation: Group 1: Patients with vestibular complaints, Group 2: Patients without vestibular complaints. All subjects underwent pure tone audiometry (PTA) testing, cold caloric test and video head impulse test (vHIT) during their admission and on the 10th day, 3rd month, and 1st year of their follow-up outpatient clinic controls. A unilateral weakness (UW) in the caloric test response was quantified according to the Jongkees formula., Results: A positive and significant relationship was found between the degree of hearing loss according to the ASHA criteria pre-treatment and the level of improvement created according to Siegel criteria at the 10th day, 3rd month, 1st year after treatment (respectively p = 0.001, p = 0.001, p < 0.001). When both short-term and long-term results were evaluated after treatment, a positive improvement in the degree of hearing loss was observed. A statistically significant difference was observed between Groups 1 and 2 when the pre-treatment, at 10 days, 3 months and 1 year after treatment the caloric test UW value was compared (respectively p = 0.020, p = 0.004, p = 0.004, p = 0.004). A statistically significant difference was observed between Groups 1 and 2 when the pre-treatment, at 10 days, 3 months and 1 year after treatment vHIT lateral canal VOR value was compared (respectively p = 0.000, p = 0.001, p = 0.000, p = 0.004). When both short-term and long-term results were evaluated after treatment, a positive improvement was observed in both caloric test results and lateral vHIT VOR values. Pre-treatment, post-treatment 10th day, 3rd month, 1st year vHIT anterior and posterior canal VOR values were found to be VOR˃0.8 in all patients. No difference was observed in anterior and posterior canal VOR values., Conclusion: Vertigo in patients with ISSHL "as objectively confirmed through caloric testing and vHIT" can be considered a sign of severe cochlear damage. Our study demonstrated a significantly increased risk of vestibular affect in patients with ISSHL, especially in the presence of vertigo. Thus, we conclude that the focus in ISSHL should not only be on the cochlea but also on the vestibular system., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To determine the prevalence of perilymphatic fistula (PLF) in sudden-onset sensorineural hearing loss (SSNHL) patients by employing the Cochlin-tomoprotein (CTP) detection test, a specific diagnostic marker for perilymph. We also analyzed the clinical characteristics associated with hearing outcomes in this cohort., Methods: A total of 74 eligible patients were prospectively enrolled. Following myringotomy, middle ear lavage (MEL) samples underwent the CTP test to identify perilymph leakage. Intratympanic dexamethasone (IT-DEX) therapy was administered, and hearing outcomes were assessed. Control groups comprised patients with chronic otitis media (n = 40) and non-inflammatory middle ears (n = 51) with concurrent MEL sample collection., Results: CTP was positive in 16 (22%) patients. No control samples showed positive results. Multiple regression analysis indicated that age and pre-treatment hearing levels significantly contributed to the CTP value. We found a positive correlation between CTP values, age, and pre-treatment pure-tone averages. Notably, CTP values in SSNHL cases aged 60 and above were significantly higher than in those below 60 years. Patients with positive CTP had significantly worse recovery rates after IT-DEX treatment., Conclusion: This study is the first prospective investigation demonstrating a positive relationship between CTP values, age, and hearing severity in SSNHL, indicating that PLF might be the essential cause of SSNHL, particularly in the elderly. Our findings suggest that IT-DEX may be less effective for PLF-associated SSNHL. Future research could reveal that PLF repair surgery is a viable treatment strategy for SSNHL. This study was registered under the UMIN Clinical Trials Registry (UMIN000010837) on 30/May/2013., (© 2023. The Author(s).)

Objective: The ear's spectral resolution or frequency selectivity (FS) is a fundamental aspect of hearing but is not routinely measured in clinical practice. This study evaluated a simplified FS testing procedure for clinical use by replacing the time-consuming two-interval forced choice (2IFC) method with method of limits (MOL) carried out using a custom-made software and consumer-grade equipment., Design and Study Sample: Study 1 compared the FS measure obtained with MOL and 2IFC procedure at two centre frequencies (CFs) (1 and 4 kHz) in 21 normal-hearing listeners. Study 2 determined the FS measure using MOL at five CFs (0.5-8 kHz) in 32 normal-hearing and nine sensorineural hearing loss listeners and compared them with their thresholds in quiet., Results: FS measurements with MOL and 2IFC methods were highly correlated and had statistically comparable intra-subject test-retest reliability. FS measures determined with MOL were reduced in the hearing-impaired compared to normal-hearing listeners at the CF corresponding to their hearing loss. Linear regression analysis showed significant relationship between FS deterioration and quiet threshold loss ( p  < 0.0001, R 2 = 0.56)., Conclusions: The simplified and affordable FS testing method can be used alongside audiometry to provide additional information about the cochlear function.

Mycetoma is a chronic granulomatous infectious disease with a triad of subcutaneous swelling, discharging sinuses and the presence of granules. The infection may occur following minor trauma or penetrating thorn injury. We report a case of a man in his 40s with a history of thorn prick 9 years ago, followed by the formation of painless discharging sinuses on the right foot for the past 2 years. Clinical, local epidemiological, histopathological examination and Gram stain confirmed the diagnosis of actinomycetoma. Prior to initiating the Welsh regimen, a pretreatment assessment of the patient's auditory function was conducted through pure tone audiometry, indicating the existence of pre-existing high-frequency bilateral sensorineural hearing loss. The patient was treated with linezolid as an alternative to amikacin, at a dosage of 600 mg two times per day, leading to complete resolution within 3 weeks. This underscores linezolid's efficacy as a safe and cost-effective alternative for actinomycetoma, without causing ototoxic side effects., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Heimler Syndrome 2 (HS-2) is a rare, autosomal recessive mild form of a peroxisomal biogenesis disorder. Though knowledge regarding the disorder is limited, emerging research has found that sensorineural hearing loss, occasional or late onset pigmentation, amelogenesis imperfecta and nail abnormalities are clinical characteristics representative of HS-2.A school-aged male presented to the dental department with a chief complaint of a lack of enamel on multiple teeth. The patient's medical history was significant for patent ductus arteriosus, bilateral sensorineural hearing loss and biallelic mutation of the PEX6 gene. The clinical exam revealed dental crowding, hypoplasia, hypo-calcification of multiple teeth and enlarged pulp chambers of maxillary molars. This case report details the clinical findings associated with HS-2, the comprehensive dental treatment to be rendered to the patient, and critical information to paediatric dentists and general dentists so that they can make proper referrals to medical specialties., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics., Methods: We screened SALL1 and DACT1 variants using next-generation sequencing in the China Deafness Genetics Consortium (CDGC) cohort enrolling 20 666 unrelated hearing loss (HL) cases. Comprehensive clinical evaluations were conducted on seven members from a three-generation TBS family. Combining data from previously reported cases, we also provided a landscape of phenotypes and genotypes of patients with TBS., Results: We identified five novel and two reported pathogenic/likely pathogenic (P/LP) SALL1 variants from seven families. Audiological features in patients differed in severity and binaural asymmetry. Moreover, previously undocumented malformations in the middle and inner ear were detected in one patient. By comprehensive clinical evaluations, we further provide evidence for the causal relationship between SALL1 variation and certain endocrine abnormalities. Penetrance analysis within familial contexts revealed incomplete penetrance among first-generation patients with TBS and a higher disease burden among their affected offspring., Conclusion: This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Teleaudiology can potentially improve access to hearing healthcare services. Remote hearing aid fittings offer a new mode of service delivery that removes barriers of geography and access to an audiologist. Real-ear measurements (REMs) are the gold standard for hearing aid output verification but require in-clinic appointments. This study will investigate whether remote hearing aid fittings can provide clinically equivalent outcomes when compared to current, in-clinic, best practice guidelines., Research Design: A repeated measure, double-blinded crossover design will be used. Participants will be randomly allocated to one of two groups to determine order of intervention, balanced for degree of hearing loss., Study Sample: Sixty adults with mild to moderate hearing loss and at least 1 year of experience with hearing aids will be recruited., Data Collection and Analysis: Participants will complete two hearing aid fitting protocols, one using an in-clinic fitting process and the other using a remote (at-home) fitting process. In-clinic fittings will include REMs with adjustments to standard (NAL-NL2) prescription targets. The two fitting protocols will then be randomly assigned to participants in a crossover design, so participants and researchers will be blinded to the order of the two fitting protocols. Participants will then have a 4-week period with follow-up appointments for participant-directed gain adjustment. For each fitting protocol, participants will complete objective measurements of final hearing aid output with REMs, speech-in-noise testing, subjective measurements of hearing aid performance, and quality of life measurements. They will then begin an identical period of living with, adjusting, and objective assessment with the other fitting protocol. Data will be analysed as repeated measures with statistical control for potential confounding variables., Results: Data will compare the four-frequency average real-ear aided response (4FREAR) for hearing aids programmed in-clinic and hearing aids programmed remotely, after participant-directed gain adjustments. Secondary measures will assess clinically significant differences in estimated speech intelligibility, hearing-related quality of life, hearing aid benefit, sound quality and preference, and speech-in-noise ability., Conclusions: This study will inform the development of best practice guidelines for remote hearing aid fittings. If no clinically significant differences are found between in-clinic and remote fit hearing aids, it has the potential to expand teleaudiology initiatives., Trial Registration: Australian New Zealand Clinical Trial Registry, ACTRN12623000028606p . Date of registration: 12 January 2023., (© 2024. The Author(s).)

Background: The outcome of clinical treatment for idiopathic sudden sensorineural hearing loss (ISSNHL) is frequently the primary concern., Aim: For the convenient prediction of reference prognosis outcomes in patients with ISSNHL., Materials and Methods: Patients diagnosed with ISSNHL who were admitted to the otorhinolaryngology ward of Zhejiang Provincial Hospital of Traditional Chinese Medicine from January 2020 to December 2023 were included. Univariate and multivariate logistic regression analyses were employed to identify independent prognostic factors for the treatment outcome of ISSNHL, which were subsequently used to develop nomograms. Discrimination, calibration, and clinical utility were assessed to evaluate the performance of the ISSNHL nomograms., Results: 371 ISSNHL patients were enrolled in this study. Multivariable logistic regression analysis showed that history of deafness, aural fullness, time of onset, and age were independent prognostic factors for ISSNHL patients, with statistically significant regression coefficients. Predictive nomograms were developed with excellent discrimination, calibration, and clinical value., Conclusions: Leveraging data from ISSNHL patients, we developed a predictive nomogram to assess prognostic factors upon admission. This nomogram facilitates clinicians in approximating the likelihood of favorable prognosis., Significance: By accumulating clinical data from ISSNHL patients, it's anticipated that the possibility of recovery following treatment can be determined.

Objectives: To investigate the role of normal weight central obesity (NWCO) in the prognosis of sudden sensorineural hearing loss (SSNHL)., Methods: We retrospectively investigated 807 cases of SSNHL from January of 2008 to August of 2019 from the Department of Otorhinolaryngology at Kaohsiung Medical University Hospital in southern Taiwan. We analyzed the association between overweight and obesity, NWCO, and the prognosis of SSNHL. The demographic and clinical characteristics, audiometry results, and outcomes were also reviewed., Results: The nonobese (body mass index [BMI] < 24 kg/m 2 ) and overweight and obese groups (BMI ≥ 24 kg/m 2 ) comprised 343 (42.50%) and 464 (57.50%) patients, respectively. The favorable prognosis rates in the nonobese and the overweight and obese groups were 45.48% and 45.91%, respectively, without a significant difference ( P  = .9048). Multivariate logistic regression revealed that BMI (adjusted odds ratio [aOR] = 1.00, 95% CI = 0.948-1.062, P  = .9165) was not significantly associated with SSNHL recovery. The normal weight noncentral obesity (NWNCO) and NWCO groups comprised 266 (77.55%) and 77 (22.45%) patients, respectively, and had favorable prognosis rates of 48.50% and 35.06%, respectively. The difference between the groups was significant ( P  = .0371). Multivariate logistic regression analysis revealed that NWCO (aOR = 2.51, 95% CI = 1.292-5.019, P  = .0075) was significantly associated with SSNHL recovery., Conclusions: NWCO may significantly affect the prognosis of SSNHL., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Approximately 20% of neonates with congenital cytomegalovirus (cCMV) develop long-term sequelae. The ability to accurately predict long-term outcomes as early as the neonatal period would help to provide for appropriate parental counseling and treatment indications. With this study, we aimed to identify neonatal predictive markers of cCMV long-term outcomes., Methods: As this study's subjects, we chose neonates diagnosed with cCMV in 13 hospitals throughout France recruited from 2013 to 2017 and evaluated for at least 2 years with thorough clinical, audiology, and imaging evaluations and psychomotor development tests., Results: A total of 253 neonates were included, and 3 were later excluded because of the identification of a genetic disorder. A total of 227 were followed up for 2 years: 187/227 (82%) and 34/227 (15%) were infected after a maternal primary or nonprimary infection, respectively, 91/227 (40%) were symptomatic at birth, and 44/227 (19%) had cCMV sequelae. Maternal primary infection in the first trimester was the strongest prognosis factor (odds ratio = 38.34 [95% confidence interval, 5.02-293], P < .001). A predictive model of no risk of sequelae at 2 years of age according to normal hearing loss at birth, normal cerebral ultrasound, and normal platelet count had 98% specificity, 69% sensitivity, and 0.89 area under the curve (95% confidence interval, 0.83-0.96)., Conclusions: In the studied population, children with normal hearing at birth, normal platelet count at birth, and a normal cranial ultrasound had no risk of neurologic sequelae and a low risk of delayed unilateral sensorineural hearing loss. The use of this model based on readily available neonatal markers should help clinicians establish a personalized care pathway for each cCMV neonate., (Copyright © 2024 by the American Academy of Pediatrics.)

Objective: Asses the efficacy of a Vestibular-balance rehabilitation program to minimize or reverse balance disability in children with sensorineural hearing loss., Method: Forty-five hearing-impaired children with balance deficits (i.e., variable degrees of sensorineural hearing loss or auditory neuropathy). Thirty-five were rehabilitated with cochlear implants, and ten with hearing aids. Their age ranged from 4 to 10 years old. A Pre-rehab evaluation was done using questionnaires, neuromuscular evaluation, vestibular and balance office testing, and vestibular lab testing (using cVEMP and caloric test). Customized balances, as well as vestibular rehabilitation exercises, have been applied for three months. That was followed by post-rehab assessment, including the Arabic DHI questionnaire, PBS, BESS, HTT, and DVA test., Results: There was a statistically significant difference in all measured parameters (including the Arabic DHI questionnaire, PBS, BESS, HTT, and DVA test) after rehabilitation., Conclusions: Vestibular-balance rehabilitation intervention positively impacts vestibular and balance functions in hearing-impaired children., Competing Interests: Declaration of competing interest All authors declare that they have no competing interests regarding this research., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Objective: To investigate the clinical features of patients with congenitally enlarged bony portions of the Eustachian tube（ET）. Methods: The medical history, physical examination, hearing test, temporal bone high resolution computed tomography（HRCT） of six patients（nine ears） with congenitally enlarged bony portion of the ET were retrospectively analyzed. Results: Four patients were men and two were women. The minimum, maximum, and average ages were 5, 21, and（14.7±6.4） years, respectively. Three malformations were bilateral and three were left-sided. Three ears had conductive hearing loss（average bone and air conduction thresholds were 13.7 dB and 71.3 dB）, three had mixed hearing loss（average bone and air conduction thresholds were 27.7 dB and 83.7 dB）, and one had extremely severe sensorineural hearing loss. The average maximum length and width of the enlarged bony ET on temporal bone HRCT were（22.61±2.94） mm and（6.50±2.33） mm, respectively. The enlargement was combined with an external auditory canal malformation in six ears, narrow tympanic cavity in six, tympanic antrum malformation in five, ossicular chain malformation in seven, cochlear malformation in six, helicotrema malformation in three, vestibule widening in two, semicircular canal malformation in three, vestibular window malformation in six, facial nerve abnormality in five, internal auditory meatus malformation in two, low middle cranial fossa in eight, and severe internal carotid artery malformation in one. Conclusion: Bony ET enlargement is a rare congenital middle ear malformation which could combined with other ear malformations. Patients can have no ET dysfunction but different patterns of hearing loss. The defect is usually found unintentionally during imaging, and the HRCT of temporal bone is significant., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Idiopathic sudden sensorineural hearing loss (ISSNHL) is one of the most common diseases in otolaryngology. Its etiology remains unknown. Furthermore, there is only a low level of evidence for the efficacy of established treatment modalities. In addition to systemic glucocorticoids, intratympanic corticosteroid treatment (ICT) has become increasingly important for treatment of ISSNHL. Different application strategies and treatment regimens have been described; however, uniform standards do not yet exist. ICT may be used for primary treatment as well as salvage therapy. Current data from meta-analyses show no benefit of intratympanic versus systemic primary therapy for sudden hearing loss (moderate evidence) but suggest a benefit of intratympanic secondary treatment over no treatment or placebo (high effect size, low evidence). Regarding combination of systemic and local glucocorticoid therapy in primary treatment of hearing loss, there may be a small benefit over systemic treatment alone (low effect size, low evidence)., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Objective: Idiopathic sudden sensorineural hearing loss (ISSNHL), as an otologic emergency, is commonly encountered and its prevalence has been climbing every year recently. To our knowledge, the prognosis of middle-aged and elderly patients is worse than that of young patients. Previous researches mainly focused on the adult population, which was considered as prognostic models who performed hearing recovery in ISSNHL. However, few studies regarding the middle-aged and elderly population who are regarded as prognostic models have been reported. Therefore, we aim to construct and validate a nomogram-based prognostic prediction model, which can provide a reference for the prognostic assessment in the middle-aged and elderly patients with ISSNHL., Method: A total of 371 middle-aged and elderly ISSNHL patients who were admitted to the Department of Otolaryngology-Head and Neck Surgery, Yanbian Hospital, Yanbian University, from April 2018 to April 2023 were enrolled in the study. All subjects were randomly divided into two groups including training group (n = 263) and validation group (n = 108). Lasso regression and multi-factor logistic regression were jointly utilized to screen out prognosis-related independent risk factors and establish a nomogram-based risk prediction model. The accuracy and clinical application value of the model were evaluated by combining the Bootstrapping method and k-fold cross-validation, plotting the receiver operating characteristic  (ROC)  curve, calculating the area under the ROC curve (AUC), plotting the decision curve analysis (DCA), and the calibrating curve., Result: We used the method of lasso regression combined with multivariate logistic regression and finally screened out eight predictors (including age, number of affected ears, degree of hearing loss, type of hearing curve, duration of disease, presence of vertigo, diabetes, and lacunar cerebral infarction) that were included into the nomogram. The C-index were 0.823 [95% CI (0.725, 0.921)] and 0.851 [95% CI (0.701, 1.000)], and the AUC values were 0.812 and 0.823 for the training and validation groups, respectively. The calibration curve for the validation group was approximately conformed to that for the modeling group, indicating favorable model calibration. The DCA results revealed the modeling group (3%-86%) and the validation group (2%-92%) showed significant net clinical benefit under the majority of thresholds., Conclusion: This study developed and validated a nomogram-based prognostic prediction model which based on the eight independent risk factors mentioned above. The predictors are conveniently accessible and may assist clinicians in formulating individualized treatment strategies., Competing Interests: Declaration of Competing Interest The authors disclaim that the study was performed without any commercial or financial connections that could be considered as potential conflicts of interest., (Copyright © 2023. Published by Elsevier B.V.)